A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946940



Internal ID18247104
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:148570519..148572297hg38UCSC Ensembl
Innerchr1:148305680..148307474hg19UCSC Ensembl
Innerchr1:146672304..146674098hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg381779
hg191795
hg181795
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv14n82
Supporting Variantsnssv2598024, nssv2598027, nssv2598032, nssv2598026, nssv2598029, nssv2598025, nssv2598031, nssv2598030, nssv2598028, nssv2598023
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesLOC101929780, NBPF10, NBPF14, NBPF8, NBPF9
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946940
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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